Canonical Allele Identifier: CA361695074

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895202-G-A
• MyVariant Identifiers: chr5:g.149274765G>A (hg19) ; chr5:g.149895202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895202G>A , CM000667.2:g.149895202G>A	GRCh38
NC_000005.9:g.149274765G>A , CM000667.1:g.149274765G>A	GRCh37
NC_000005.8:g.149254958G>A	NCBI36
NG_009102.1:g.54592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1709C>T MANE Select	ENSP00000255266.5:p.Thr570Ile
ENST00000255266.9:c.1709C>T	ENSP00000255266.5:p.Thr570Ile
ENST00000508173.5:n.1893C>T
ENST00000613228.1:c.1466C>T	ENSP00000478060.1:p.Thr489Ile
ENST00000617647.4:c.1466C>T	ENSP00000482774.1:p.Thr489Ile
NM_000440.2:c.1709C>T	NP_000431.2:p.Thr570Ile
XM_011537648.1:c.1709C>T	XP_011535950.1:p.Thr570Ile
XM_011537649.1:c.1163C>T	XP_011535951.1:p.Thr388Ile
XM_011537650.1:c.824C>T	XP_011535952.1:p.Thr275Ile
XM_011537651.1:c.662C>T	XP_011535953.1:p.Thr221Ile
XM_011537652.1:c.632C>T	XP_011535954.1:p.Thr211Ile
XM_011537653.1:c.632C>T	XP_011535955.1:p.Thr211Ile
XM_011537654.1:c.632C>T	XP_011535956.1:p.Thr211Ile
XM_011537650.2:c.824C>T	XP_011535952.1:p.Thr275Ile
XM_011537651.2:c.662C>T	XP_011535953.1:p.Thr221Ile
XM_011537653.2:c.632C>T	XP_011535955.1:p.Thr211Ile
XM_011537654.2:c.632C>T	XP_011535956.1:p.Thr211Ile
XM_017009572.2:c.1466C>T	XP_016865061.1:p.Thr489Ile
NM_000440.3:c.1709C>T MANE Select	NP_000431.2:p.Thr570Ile